RGD:13615284 Rat Genome Database

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Variant: RGD:13615284 -  Homo sapiens

RGD ID: 13615284
RS ID: rs369317112
ClinVar ID: CV534304
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NF2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 30,061,063
GRCh38 22 29,665,074
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_511t1:c.885+10G>C
LRG_511t2:c.885+10G>C
NM_016418.5:c.885+10G>C
LRG_511:g.66519G>C
More... 		11/17/2017 intron variant likely benign Acoustic neurinoma bilateral; Acoustic schwannomas bilateral; Bilateral acoustic neurofibromatosis; Neurofibromatosis central type; Neurofibromatosis type II; NF 2; SCHWANNOMATOSIS, VESTIBULAR
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NF2
Accession:NM_001407058
Location:INTRON

Gene Symbol:NF2
Accession:NM_181828
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407054
Location:INTRON

Gene Symbol:NF2
Accession:NM_181832
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407060
Location:INTRON

Gene Symbol:NF2
Accession:XM_017028809
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407065
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407056
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407063
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407064
Location:INTRON

Gene Symbol:NF2
Accession:XM_047441386
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407057
Location:INTRON

Gene Symbol:NF2
Accession:NM_000268
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407059
Location:INTRON

Gene Symbol:NF2
Accession:NM_181833
Location:INTRON

Gene Symbol:NF2
Accession:NM_181829
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407066
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407062
Location:INTRON

Gene Symbol:NF2
Accession:NM_181831
Location:INTRON

Gene Symbol:NF2
Accession:NM_181830
Location:INTRON

Gene Symbol:NF2
Accession:NM_016418
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407053
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407067
Location:INTRON

Gene Symbol:NF2
Accession:NM_181825
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407055
Location:INTRON

Gene Symbol:NF2
Accession:NR_176267
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000632659 CLINVAR
dbSNP (RS) rs369317112 CLINVAR
MedGen C0027832 CLINVAR
NCBI Gene NF2 CLINVAR
OMIM 101000 CLINVAR
  607379 CLINVAR
SNOMED CT 92503002 CLINVAR